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Article

Terminal deletion of chromosome 4p (4p16.3) shows a breakpoint between loci linked to Huntington disease.

American journal of medical genetics - 1 Jul 1992

Ikonen E, Salo A, Somer M, Somer H, Pääkkönen L, Peltonen L

Abstract excerpt

A 15-year-old boy with a terminal deletion of the short arm of chromosome 4 is described. The patient has a mild clinical phenotype that is incompatible with Wolf-Hirschhorn syndrome. Careful neurological examination including CT scan did not show any signs of Huntington disease. The chromosomal breakpoint was analyzed by means of polymorphic DNA probes localized close to the tentative Huntington (HD) locus. The...

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Source

Identifiers

PMID: 1535752
DOI: 10.1002/ajmg.1320430421

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Terminal deletion of chromosome 4p (4p16.3) shows a breakpoint between loci linked to Huntington disease.PMID 1535752Read ↗

New DNA markers in the Huntington's disease gene candidate region.Semantic proximity Read ↗

Delineation of a 50 kilobase DNA segment containing the recombination site in a sporadic case of Huntington's disease.Semantic proximity Read ↗

Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3.Semantic proximity Read ↗

Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.Semantic proximity Read ↗

Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene.Semantic proximity Read ↗

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.Semantic proximity Read ↗

Nonrandom association between Huntington disease and two loci separated by about 3 Mb on 4p16.3.Semantic proximity Read ↗

Recombination of 4p16 DNA markers in an unusual family with Huntington disease.Semantic proximity Read ↗

Exclusion of DNA changes in the beta-subunit of the c-GMP phosphodiesterase gene as the cause for Huntington's disease.Semantic proximity Read ↗

Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4.Semantic proximity Read ↗

A child with terminal 14q deletion syndrome: consideration of genotype-phenotype correlations.Semantic proximity Read ↗

Complex patterns of linkage disequilibrium in the Huntington disease region.Semantic proximity Read ↗

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